Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hartnup disorder 234500, Iminoglycinuria, digenic 242600 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Iminoglycinuria, digenic, Hartnup disorder AD |